Disease: Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Name Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome

Synonyms -

Classification circulatory, developmental, genetic, neurological

Phenotypes Abnormality of the cerebellar vermis; Capillary hemangioma; Cerebellar hypoplasia; Cerebral cortical hemiatrophy; Enlarged fetal cisterna magna; Hydrocephalus; Naevus flammeus of the eyelid; Seizure; Subcortical cerebral atrophy

Associated Genes -

Mouse Orthologs -

Source ORPHA:2703 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with ORPHA:2703 by orthology to a human gene.

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